Molecular Mechanisms of Cilia Related Diseases
Description:... Eukaryotic cilia are evolutionarily conserved microtubule-based structures that protrude from the cell surface. In vertebrates, multiple motile and primary (immotile) cilia fulfill sensory and motility functions that are critical for embryonic development and the homeostasis of adult tissues. Cilia malfunction has been shown to cause a growing number of diseases presenting phenotypes such as brain and skeletal developmental problems, intellectual disability, blindness, infertility, obesity, and kidney cysts. Despite their clinical relevance, we are still far from fully understanding the basic biology of these multiple cilia types. For example, we do not know the molecular compositions of all types of cilia nor how cilia structural and functional diversity is generated. Also, we are still identifying the genetic causes of ciliopathies and the impact of mutations on ciliary protein function, cilia biogenesis/maintenance, ciliary functions, and disease development. Understanding all these aspects concerning vertebrate cilia will greatly contribute to the design of innovative therapeutic approaches for cilia-related disorders.
Understanding the basic biology of vertebrate cilia is critical for the understanding of cilia-related disorders. However, there are still many open questions about these organelles. For example, we do not know the proteomes and protein-protein interaction networks specific of each cilium type. Also, the function of ciliary proteins is often studied mostly in vitro and in the context of primary cilia. This limits our possibility to answer questions like “why does a certain disease mutation affect only certain types of cilia in specific tissues?”. Therefore, this Research Topic aims to address these issues and focus on the latest findings on the basic biology of vertebrate cilia such as their molecular composition and biogenesis pathways, and also on advances on our understanding of the molecular mechanisms of ciliopathies.
The goal of this Research Topic is to cover novel research focused on furthering our understanding on the molecular mechanisms underlying the development of cilia-associated diseases. Areas to be covered in this Research Topic may include, but are not limited to:
- Identification of novel cilia-related diseases
- Genetic causes of ciliopathies
- Molecular mechanisms of disease and development of therapeutic approaches
- Molecular composition of vertebrate cilia
- Molecular mechanisms of vertebrate cilia biogenesis and multiple functions
Original research articles as well as review articles are welcomed.
Show description